Identification of splice defects due to noncanonical splice site or deep‐intronic variants in ABCA4

Pathogenic variants in the ATP‐binding cassette transporter A4 (ABCA4) gene cause a continuum of retinal disease phenotypes, including Stargardt disease. Noncanonical splice site (NCSS) and deep‐intronic variants constitute a large fraction of disease‐causing alleles, defining the functional consequ...

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Detalles Bibliográficos
Autores principales: Fadaie, Zeinab, Khan, Mubeen, Del Pozo‐Valero, Marta, Cornelis, Stéphanie S., Ayuso, Carmen, Cremers, Frans P. M., Roosing, Susanne, The ABCA4 study group
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6899986/
https://www.ncbi.nlm.nih.gov/pubmed/31397521
http://dx.doi.org/10.1002/humu.23890

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6899986/
https://www.ncbi.nlm.nih.gov/pubmed/31397521
http://dx.doi.org/10.1002/humu.23890

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